PGD for sex determination and chromosome rearrangements: Fish and emerging technologies

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Abstract

Fluorescence in situ hybridisation (FISH) on the fixed nuclei of biopsied blastomeres from day 3 cleavage-stage embryos using target-specific DNA probes has been for over a decade the technique of choice for detecting chromosome imbalance in embryos from couples referred for PGD because of a chromosome rearrangement. It has also been used to select female embryos in families with the rare X-linked diseases for which a mutation-specific test was not available or practical.

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Scriven, P. N., & Ogilvie, C. M. (2014). PGD for sex determination and chromosome rearrangements: Fish and emerging technologies. In Preimplantation Genetic Diagnosis in Clinical Practice (pp. 65–81). Springer-Verlag London Ltd. https://doi.org/10.1007/978-1-4471-2948-6_7

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